Varaico: Literature-Extracted Genetic Variants

ELMO2

58 papers

RefSeq Summary

The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells a...

Pfam Domains

ELMO_Naa 6–80UCSCELMO protein N-terminal Ras-binding domain

ELMO_ARMaa 115–272UCSCELMO, armadillo-like helical domain

ELMO_CED12aa 295–474UCSCELMO/CED-12 family

PH_12aa 541–667UCSCPleckstrin homology domain

Gene Aliases

HGNC Name

engulfment and cell motility 2

HGNC Alias Symbols

CED12; ELMO-2; CED-12; KIAA1834; FLJ11656

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_133171.5

p.F555L

c.1665C>G

Surrounding Variants

1 paper

NM_133171.5

p.F555L

c.1665C>A

1 paper

NM_133171.5

p.F555L

c.1663T>C

1 paper

NM_133171.5

p.G559fs

c.1675_1676fs

1 paper

NM_133171.5

p.C550C

c.1650T>C

1 paper

NM_133171.5

p.R561R

c.1683C>A

1 paper

NM_133171.5

p.L549L

c.1647C>A

1 paper

NM_133171.5

p.N547N

c.1641C>T

1 paper

NM_133171.5

p.L546L

c.1638G>C

1 paper

NM_133171.5

p.I541I

c.1623C>T

1 paper

NM_133171.5

p.V527Splc

c.1581-8C>T

1 paper

NM_133171.5

p.E595K

c.1783G>A

1 paper

NM_133171.5

p.R500H

c.1499G>A